Gene: EPRS1

Alternate names for this Gene: EARS|EPRS|GLUPRORS|HLD15|PARS|PIG32|QARS|QPRS

Gene Summary: Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is a multifunctional aminoacyl-tRNA synthetase that catalyzes the aminoacylation of glutamic acid and proline tRNA species. Alternative splicing has been observed for this gene, but the full-length nature and biological validity of the variant have not been determined.

Gene is located in Chromosome: 1

Location in Chromosome : 1q41

Description of this Gene: glutamyl-prolyl-tRNA synthetase 1

Type of Gene: protein-coding

rs1288116010 in EPRS1 gene and LEUKODYSTROPHY, HYPOMYELINATING, 15 PMID 29576217 2018 Bi-allelic Mutations in EPRS, Encoding the Glutamyl-Prolyl-Aminoacyl-tRNA Synthetase, Cause a Hypomyelinating Leukodystrophy.

rs11325774 in EPRS1 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.